Canonical Allele Identifier: CA516730552

Gene: TAF1

Linked Data

• dbSNP Id: rs1255882004
• gnomAD v2: X-70618495-C-T
• MyVariant Identifiers: chrX:g.70618495C>T (hg19) ; chrX:g.71398645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71398645C>T , CM000685.2:g.71398645C>T	GRCh38
NC_000023.10:g.70618495C>T , CM000685.1:g.70618495C>T	GRCh37
NC_000023.9:g.70535220C>T	NCBI36
NG_012771.2:g.37382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276072.9:c.2980C>T	ENSP00000276072.5:p.Leu994=
ENST00000483985.3:c.609C>T
ENST00000683202.1:c.3694C>T	ENSP00000507781.1:p.Leu1232=
ENST00000683668.1:c.2980C>T	ENSP00000507280.1:p.Leu994=
ENST00000683782.1:c.3694C>T	ENSP00000506996.1:p.Leu1232=
ENST00000276072.8:c.288C>T
ENST00000373790.9:c.3631C>T	ENSP00000362895.5:p.Leu1211=
ENST00000423759.6:c.3694C>T MANE Select	ENSP00000406549.2:p.Leu1232=
ENST00000276072.7:c.3754C>T	ENSP00000276072.3:p.Leu1252=
ENST00000373790.8:c.3691C>T	ENSP00000362895.4:p.Leu1231=
ENST00000423759.5:c.3754C>T	ENSP00000406549.1:p.Leu1252=
ENST00000483985.2:c.423C>T
NM_001286074.1:c.3754C>T	NP_001273003.1:p.Leu1252=
NM_004606.4:c.3754C>T	NP_004597.2:p.Leu1252=
NM_138923.3:c.3691C>T	NP_620278.1:p.Leu1231=
NR_104387.1:n.3830C>T
NR_104388.1:n.3830C>T
NR_104389.1:n.3830C>T
NR_104390.1:n.3830C>T
NR_104391.1:n.3830C>T
NR_104392.1:n.3830C>T
NR_104393.1:n.3830C>T
NR_104394.1:n.3830C>T
NR_104395.1:n.3830C>T
XM_005262295.1:c.3754C>T	XP_005262352.1:p.Leu1252=
XM_005262296.1:c.3751C>T	XP_005262353.1:p.Leu1251=
XM_005262297.3:c.3691C>T	XP_005262354.1:p.Leu1231=
XM_006724682.2:c.3373C>T	XP_006724745.1:p.Leu1125=
XM_011531016.1:c.3754C>T	XP_011529318.1:p.Leu1252=
XR_938407.1:n.3764C>T
XM_005262297.4:c.3691C>T	XP_005262354.1:p.Leu1231=
XM_024452429.1:c.3373C>T	XP_024308197.1:p.Leu1125=
XM_024452430.1:c.3754C>T	XP_024308198.1:p.Leu1252=
NM_001286074.2:c.3694C>T	NP_001273003.2:p.Leu1232=
NM_004606.5:c.3694C>T MANE Select	NP_004597.3:p.Leu1232=
NM_138923.4:c.3631C>T	NP_620278.2:p.Leu1211=
NR_104387.2:n.3712C>T
NR_104388.2:n.3712C>T
NR_104389.2:n.3712C>T
NR_104390.2:n.3712C>T
NR_104391.2:n.3712C>T
NR_104392.2:n.3712C>T
NR_104393.2:n.3712C>T
NR_104394.2:n.3712C>T
NR_104395.2:n.3712C>T